Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q124*

FUS

2,108 papers

RefSeq Summary

This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully process...

Pfam Domains

RRM_1aa 287–365UCSCRNA recognition motif
Zn_ribbon_RanBPaa 422–453UCSCZn-finger in Ran binding protein and others

Gene Aliases

HGNC Name

FUS RNA binding protein

HGNC Previous Symbol

ALS6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004960.4
p.Q124*
c.370C>T
Surrounding Variants
1 paper
NM_004960.4
p.P125L
c.374C>T
1 paper
NM_004960.4
p.Y122S
c.365A>C
1 paper
NM_004960.4
p.Q126*
c.376C>T
2 papers
NM_004960.4
p.Q126P
c.377A>C
1 paper
NM_004960.4
p.S127G
c.379A>G
1 paper
NM_004960.4
p.S127N
c.380G>A
1 paper
NM_004960.4
p.S120G
c.358A>G
1 paper
NM_004960.4
p.S119N
c.356G>A
2 papers
NM_001170634.1
p.S128N
c.383G>A
NM_004960.4
p.S129N
c.386G>A
1 paper
NM_004960.4
p.Q118L
c.353A>T
1 paper
NM_004960.4
p.Y130D
c.388T>G
1 paper
NM_004960.4
p.Y130delFs
c.389_390delAC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."